Vnitr Lek 2005, 51(4):462-470

Hyperhomocysteinemia - is it still the only interesting but diagnostically unsignificant finding?

J. Hyánek1,*, J. Matoušková2, P. Kmoníček2, P. Formánek2, V. Kožich5, J. Zeman6, M. Orendáč5, M. Jánošík6, P. Lepší2, K. Kopřiva2, L. Dubská1, J. Dvořáková1, H. Veselá1, K. Kupka4, B. Malec4, H. Pejznochová1, R. Hoffmann1, J. Balasz1, V. Martiníková1, M. Vodičková1, J. Pola3, V. Maťoška1, K. Koubek2
1 oddělení klinické biochemie, metabolická a hematologická ambulance Nemocnice Na Homolce, Praha, přednosta prof. MUDr. J. Hyánek, DrSc.
2 koronární jednotka intenzivní péče kardiologického oddělení Nemocnice Na Homolce, Praha, přednosta prof. MUDr. P. Niederle, DrSc.
3 interní oddělení Nemocnice, Tanvald, přednosta prim. MUDr. J. Pola
4 Ústav nukleární medicíny 1. lékařské fakulty UK a VFN, Praha, přednosta prof. MUDr. T. Šámal, DrSc.
5 Ústav dědičných metabolických poruch 1. lékařské fakulty UK, Praha, přednosta prof. MUDr. M. Elleder, DrSc.
6 Klinika dětí a dorostu 1. lékařské fakulty UK a VFN, Praha, přednosta doc. MUDr. J. Hoza, CSc.

After "metabolic prologue" the authors describe 4 cases of the patients at whom the high level of homocystein in serum was detected within hospitalisation at intensive care unit of Hospital Na Homolce. There are the cases of typical homocysteinurie with hereditary deficit of cystathionin-beta-synthase enzyme recognized only after a passed myocardial infarct. The next there were a myocardial infarct within suspect pernicious anaemia, an acute pulmonary embolism with till the time not diagnosed pernicious anaemia and finally a deep flebothrombosis with diagnosed pernicious anaemia but insufficiently treating for allergic reaction. The important homocysteinemie, which is occurred at all these patients, was as a result of an important deficit of cobalamin in remethyl reaction removing homocystein from plasma. The inclusion of homocystein examination into the routine diagnostic process could be fecund first of all in the patients with cardiovascular handicap; without changes of lipid spectrum and risk factors.

Keywords: homocysteine; hyperhomocysteinemia; homocystinuria; vitamin B12 deficiency; folate deficiency; risk factors; atherosclerosis

Received: May 11, 2004; Accepted: June 22, 2004; Published: April 1, 2005  Show citation

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Hyánek J, Matoušková J, Kmoníček P, Formánek P, Kožich V, Zeman J, et al.. Hyperhomocysteinemia - is it still the only interesting but diagnostically unsignificant finding? Vnitr Lek. 2005;51(4):462-470.
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